Canonical Allele Identifier: CA343148065

Gene: F5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169541444C>A , CM000663.2:g.169541444C>A	GRCh38
NC_000001.10:g.169510682C>A , CM000663.1:g.169510682C>A	GRCh37
NC_000001.9:g.167777306C>A	NCBI36
NG_011806.1:g.50088G>T , LRG_553:g.50088G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000130.5:c.3646G>T MANE Select	NP_000121.2:p.Glu1216Ter
ENST00000367797.9:c.3646G>T MANE Select	ENSP00000356771.3:p.Glu1216Ter
NM_000130.4:c.3646G>T , LRG_553t1:c.3646G>T	NP_000121.2:p.Glu1216Ter
ENST00000367796.3:c.3661G>T	ENSP00000356770.3:p.Glu1221Ter
ENST00000367797.7:c.3646G>T	ENSP00000356771.3:p.Glu1216Ter
XM_017000660.2:c.3235G>T	XP_016856149.1:p.Glu1079Ter